Gene: NOTCH1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751489
rs61751489
NOTCH1
0.010 GeneticVariation BEFREE Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923). 26708639

2016
dbSNP: rs557319054
rs557319054
NOTCH1
0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972

2006
dbSNP: rs61755997
rs61755997
NOTCH1
0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972

2006